A case of galactosialidosis with renal failure and hippocampal sclerosis

Abstract

Galactosialidosis is a rare, recessively inherited lysosomal storage disease, characterized by the combined deficiency of β -D-galactosidase and N-acetyl- α -neuraminidase, due to the genetic alteration of the protective protein/cathepsin A. Its clinical expression varies depending on the age of onset. We report the clinical and biochemical findings of a 15-year-old male who was firstly admitted at the age of 5.5 yr, due to heavy proteinuria, which was followed by progressive renal failure and transplantation at 6.5 yr of age. The diagnosis of galactosialidosis was established by the demonstration of a combined deficiency of neuraminidase β -galactosidase as well as of deficient cathepsin A activity. The renal function started to deteriorate again at the age of 11 yr, when he manifested elements of renal allograft nephropathy. Pyramidal tract dysfunction and generalized tonic-clonic epileptic seizures were added to his clinical picture at that age, whereas his range of movements was clearly compromised due to dysostosis multiplex. A subsequent magnetic resonance imaging demonstrated mild dilatation of the lateral ventricles and cerebral atrophy, as well as hippocampal sclerosis, which may be considered an additional feature of the disease. To the best of our knowledge, this is the first reported patient with galactosialidosis among Greeks.